MUTYH-Associated Polyposis (MUTYH) 2 Mutations
2004911
Ordering Recommendation
Diagnostic testing for MUTYH-associated polyposis. Carrier screening for MUTYH-associated polyposis.
Mnemonic
MYH SEQ
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory.
Specimen Required
- Patient Preparation
- Collect
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Refrigerated.
- Unacceptable Conditions
- Remarks
- Stability
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
Interpretive Data
Background Information for MUTYH-Associated Polyposis (MUTYH) 2 Mutations:
Characteristics of MUTYH-Associated Polyposis (MAP): Development of colonic polyps (10-100) with the age of diagnosis occurring in the third decade or older.
Incidence: Less than 1 percent of colorectal cancer cases.
Inheritance: Autosomal recessive.
Penetrance: Greater than 99 percent in untreated individuals.
Cause: Pathogenic biallelic MUTYH gene mutations.
Clinical Sensitivity: 85 percent of MUTYH mutations in Caucasians.
Methodology: Targeted testing for the MUTYH gene mutations c.494A>G (Y165C) and c.1145G>A (G382D) by PCR and bidirectional sequencing.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Mutations in the MUTYH gene, other than Y165C and G382D, are not evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
Characteristics of MUTYH-Associated Polyposis (MAP): Development of colonic polyps (10-100) with the age of diagnosis occurring in the third decade or older.
Incidence: Less than 1 percent of colorectal cancer cases.
Inheritance: Autosomal recessive.
Penetrance: Greater than 99 percent in untreated individuals.
Cause: Pathogenic biallelic MUTYH gene mutations.
Clinical Sensitivity: 85 percent of MUTYH mutations in Caucasians.
Methodology: Targeted testing for the MUTYH gene mutations c.494A>G (Y165C) and c.1145G>A (G382D) by PCR and bidirectional sequencing.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Mutations in the MUTYH gene, other than Y165C and G382D, are not evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81401
Components
| Component Test Code* | Component Chart Name |
|---|---|
| 2004912 | MUTYH-Associated Polyposis Specimen |
| 2004913 | MUTYH-Associated Polyposis 2 Mut Interp |
Cross References
- Familial Adenomatous Polyposis (MYH-Associated Polyposis (MYH) 2 Mutations)
- MAP (MUTYH-Associated Polyposis) 2 Mutations
- MYH-Associated Polyposis 2 Mutations